Article
Genetic Heterogeneity of Autism Spectrum Disorder: Identification of Five Novel Mutations (RIMS2, FOXG1, AUTS2, ZCCHC17, and SPTBN5) in Iranian Families via Whole-Exome and Whole-Genome Sequencing.
Biochemical genetics - 1 Jun 2026
Mirahmadi Maryam, Kahani Seyyed Mohammad, Sharifi-Zarchi Ali, Firouzabadi Saghar Ghasemi, Behjati Farkhondeh, Garshasbi Masoud
Abstract excerpt
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by abnormal social interactions, verbal communication difficulties, and restricted repetitive behaviors. Identifying the underlying genetic factors is crucial because of the complex genetic and environmental etiology. In this study, we performed whole-exome sequencing (WES), whole-genome sequencing (WGS), and array comparative genomic...
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